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Innovative assembly strategy contributes to understanding the evolution and conservation genetics of the endangered Solenodon paradoxus from the island of Hispaniola

机译:创新的装配策略有助于了解来自西班牙裔岛屿的濒危的Seleenodon paradoxus的进化和保护遗传学

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摘要

Solenodons are insectivores that live in Hispaniola and Cuba. They form an isolated branch in the tree of placental mammals that are highly divergent from other eulipothyplan insectivores The history, unique biology, and adaptations of these enigmatic venomous species could be illuminated by the availability of genome data. However, a whole genome assembly for solenodons has not been previously performed, partially due to the difficulty in obtaining samples from the field. Island isolation and reduced numbers have likely resulted in high homozygosity within the Hispaniolan solenodon (Solenodon paradoxus). Thus, we tested the performance of several assembly strategies on the genome of this genetically impoverished species. The string graph–based assembly strategy seemed a better choice compared to the conventional de Bruijn graph approach due to the high levels of homozygosity, which is often a hallmark of endemic or endangered species. A consensus reference genome was assembled from sequences of 5 individuals from the southern subspecies (S. p. woodi). In addition, we obtained an additional sequence from 1 sample of the northern subspecies (S. p. paradoxus). The resulting genome assemblies were compared to each other and annotated for genes, with an emphasis on venom genes, repeats, variable microsatellite loci, and other genomic variants. Phylogenetic positioning and selection signatures were inferred based on 4,416 single-copy orthologs from 10 other mammals. We estimated that solenodons diverged from other extant mammals 73.6 million years ago. Patterns of single-nucleotide polymorphism variation allowed us to infer population demography, which supported a subspecies split within the Hispaniolan solenodon at least 300 thousand years ago.
机译:狼牙是生活在西班牙和古巴的食虫动物。它们在胎盘哺乳动物的树中形成了一个孤立的分支,与其他真脂生食虫高度不同。这些神秘的有毒物种的历史,独特的生物学和适应性可以通过基因组数据的使用来阐明。但是,由于没有从野外获得样品的困难,因此尚未进行过螺牙菌的全基因组组装。岛屿的孤立和数量的减少可能导致了Hispaniolan solenodon(Solenodon paradoxus)内的高纯合性。因此,我们测试了几种组装策略在该遗传贫困物种的基因组上的性能。与传统的de Bruijn图方法相比,基于字符串图的组装策略似乎是一个更好的选择,这是因为纯合度很高,而纯合度通常是地方性或濒危物种的标志。共有参考基因组是由来自南部亚种(S. p。woodi)的5个个体的序列组装而成。此外,我们从北部亚种(S. p。paradoxus)的1个样本中获得了一个附加序列。将所得的基因组装配体相互比较并注释基因,重点是毒液基因,重复序列,可变微卫星基因座和其他基因组变体。系统发育定位和选择签名是根据来自其他10个哺乳动物的4,416个单拷贝直系同源物推断的。我们估计螺牙龙与7360万年前的其他现存哺乳动物不同。单核苷酸多态性变异的模式使我们能够推断种群人口统计学,这支持了至少在30万年前在西班牙埃森氏菌内分裂的亚种。

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